{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T12:01:38Z","timestamp":1785240098436,"version":"3.55.0"},"reference-count":16,"publisher":"The Endocrine Society","issue":"9","license":[{"start":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T00:00:00Z","timestamp":1785196800000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Primary amenorrhea is a common referral indication in pediatric and adolescent endocrinology and can occur due to hypothalamic-pituitary disorders, uterovaginal anatomical anomalies, or gonadal dysfunction. We describe 3 adolescents presenting with primary amenorrhea and otherwise appropriate pubertal development, due to Mayer-Rokitansky-Kuster-Hauser syndrome, each illustrating a distinct diagnostic challenge. The patient in case 1, who also had concerns of short stature, had elevated gonadotropin levels, suggesting a possibility of primary ovarian insufficiency. However, a normal estradiol level and repeat gonadotropin testing clarified the underlying hormonal physiology. The patient in case 2 presented with bilateral inguinal swellings and primary amenorrhea mimicking androgen insensitivity, but imaging demonstrated ectopic ovaries with absent M\u00fcllerian structures. The patient in case 3 had primary amenorrhea and a large lumbosacral mass with neurological symptoms, due to a lipomeningomyelocele associated with M\u00fcllerian agenesis. A structured evaluation incorporating repeat hormonal assessment and detailed imaging clarified the diagnosis in all cases. This report highlights the common diagnostic pitfalls during evaluation for primary amenorrhea and emphasizes the importance of reviewing the biochemical data in the context of clinical and imaging findings. In addition, a retrospective review of our cohort of adolescent girls with similar presentations is elaborated to highlight the range of associated findings.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag197","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T11:53:55Z","timestamp":1783598035000},"source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic puzzles in primary amenorrhea: a report of 3 cases"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8222-3843","authenticated-orcid":false,"given":"Sapna","family":"Nayak","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences , Lucknow, Uttar Pradesh 226014 ,","place":["India"]},{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Christian Medical College , Vellore, Tamil Nadu 632004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonali","family":"Verma","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences , Lucknow, Uttar Pradesh 226014 ,","place":["India"]},{"name":"Aria Healthcare Pediatric Endocrinology, , Deoghar, Jharkhand 814112 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankur","family":"Mandelia","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences , Lucknow, Uttar Pradesh 226014 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0395-7812","authenticated-orcid":false,"given":"Preeti","family":"Dabadghao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences , Lucknow, Uttar Pradesh 226014 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5562-6818","authenticated-orcid":false,"given":"Margaret","family":"Zacharin","sequence":"additional","affiliation":[{"name":"University of Melbourne Department of Pediatrics, , Parkville, Victoria 3052 ,","place":["Australia"]},{"name":"Department of Endocrinology, Royal Children's Hospital, Murdoch Children\u2032s Research Institute , Parkville, Victoria 3052 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2026,7,28]]},"reference":[{"issue":"6","key":"2026072807144502700_luag197-B1","doi-asserted-by":"crossref","first-page":"e143","DOI":"10.1097\/AOG.0000000000001215","article-title":"ACOG Committee Opinion No. 651: menstruation in girls and adolescents: using the menstrual cycle as a vital sign","volume":"126","author":"American College 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controversies","volume":"52","author":"Rivas","year":"2022","journal-title":"Pediatr Radiol"},{"issue":"4","key":"2026072807144502700_luag197-B5","first-page":"524","article-title":"The gonadotrophin surge in humans: its mechanism and role in ovulatory function\u2013a review","volume":"19","author":"Goh","year":"1990","journal-title":"Ann Acad Med Singap"},{"issue":"4","key":"2026072807144502700_luag197-B6","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s10024-003-1124-z","article-title":"Facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker malformation: case report","volume":"6","author":"Pillay","year":"2003","journal-title":"Pediatr Dev Pathol"},{"issue":"7","key":"2026072807144502700_luag197-B7","doi-asserted-by":"crossref","first-page":"4014","DOI":"10.1007\/s00330-020-06681-4","article-title":"Typical and atypical pelvic MRI characteristics of Mayer-Rokitansky-K\u00fcster-Hauser syndrome: a comprehensive analysis of 201 patients","volume":"30","author":"Wang","year":"2020","journal-title":"Eur Radiol"},{"issue":"1","key":"2026072807144502700_luag197-B8","doi-asserted-by":"crossref","first-page":"46","DOI":"10.5336\/jcog.2022-91522","article-title":"A case report of type-II Mayer-Rokitansky-K\u00fcster-Hauser syndrome with ovarian inguinal hernia presenting with an adnexal mass","volume":"33","author":"Dh\u0131ngra","year":"2023","journal-title":"Clin Obstet Gynecol"},{"key":"2026072807144502700_luag197-B9","doi-asserted-by":"crossref","first-page":"100215","DOI":"10.1016\/j.ejro.2020.01.004","article-title":"Inguinal herniation of left ovary, fallopian tube and rudimentary left horn of bicornuate uterus associated with type 2 Mayer- Rakitansky-Kuster-Hauser (MRKH) syndrome in a teenage girl: a case report and literature review","volume":"7","author":"Jafari","year":"2020","journal-title":"Eur J Radiol"},{"issue":"2","key":"2026072807144502700_luag197-B10","doi-asserted-by":"crossref","DOI":"10.3390\/jcm13020607","article-title":"A Cohort of 469 Mayer-Rokitansky-K\u00fcster-Hauser syndrome patients-associated malformations, syndromes, and heterogeneity of the phenotype","volume":"13","author":"Pietzsch","year":"2024","journal-title":"J Clin Med"},{"issue":"1","key":"2026072807144502700_luag197-B11","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1111\/1471-0528.17928","article-title":"Magnetic resonance imaging and clinical features of Mayer-Rokitansky-K\u00fcster-Hauser syndrome: a 10-year review from a dedicated specialist centre","volume":"132","author":"Cooper","year":"2025","journal-title":"BJOG"},{"issue":"2","key":"2026072807144502700_luag197-B12","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.fertnstert.2021.02.033","article-title":"Clinical characteristics of 1,055 Chinese patients with Mayer-Rokitansky-K\u00fcster-Hauser syndrome: a nationwide multicentric study","volume":"116","author":"Chen","year":"2021","journal-title":"Fertil Steril"},{"issue":"7","key":"2026072807144502700_luag197-B13","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1007\/s00431-025-06256-9","article-title":"Cytogenetic anomalies are the predominant genetic alteration in children with nonfamilial tall stature: a comparative study with familial cases","volume":"184","author":"Gregorova","year":"2025","journal-title":"Eur J Pediatr"},{"key":"2026072807144502700_luag197-B14","doi-asserted-by":"crossref","first-page":"001","DOI":"10.29328\/journal.jgmgt.1001006","article-title":"Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): a tangible evidence but a puzzling mechanism","volume":"4","author":"Guerrier","year":"2021","journal-title":"J Genet Med Gene 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